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Details for SEMA3A:c.2150C>T, p.Thr717Ile

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
83590853	83961537

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2150C>T

PROTEIN CHANGE

p.Thr717Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001162	0.0001845	0.0009831	0.01935	0.0001088	0.0	0.0002817	0.002448	0.0003593

ESP
AA	EA
0.0	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.201915	Disease causing

DBSNP ID

1 combination linked to SEMA3A:c.2150C>T, p.Thr717Ile

1 disease linked to SEMA3A:c.2150C>T, p.Thr717Ile

Isolated congenital anosmia

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